Linked Data
ClinVar Variation Id:
310088
dbSNP Id:
rs776206258
ExAC:
12:6184517 G / A
gnomAD v2:
12-6184517-G-A
gnomAD v3:
12-6075351-G-A
gnomAD v4:
12-6075351-G-A
COSMIC:
COSM80745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6075351G>A , CM000674.2:g.6075351G>A | GRCh38 |
| NC_000012.11:g.6184517G>A , CM000674.1:g.6184517G>A | GRCh37 |
| NC_000012.10:g.6054778G>A | NCBI36 |
| NG_009072.1:g.54320C>T | |
| NG_009072.2:g.54320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.858C>T MANE Select | ENSP00000261405.5:p.Thr286= | |
| ENST00000261405.9:c.858C>T | ENSP00000261405.5:p.Thr286= | |
| ENST00000538635.5:n.420+35164C>T | ||
| NM_000552.3:c.858C>T | NP_000543.2:p.Thr286= | |
| NM_000552.4:c.858C>T | NP_000543.2:p.Thr286= | |
| NM_000552.5:c.858C>T MANE Select | NP_000543.3:p.Thr286= |